Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659781 | SCV000781633 | uncertain significance | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003128720 | SCV003805994 | uncertain significance | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV003753150 | SCV004459869 | benign | Kabuki syndrome | 2023-08-30 | criteria provided, single submitter | clinical testing |